Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5662337G= , CM000673.2:g.5662337G= | GRCh38 |
| NC_000011.9:g.5683567G= , CM000673.1:g.5683567G= | GRCh37 |
| NC_000011.8:g.5640143G= | NCBI36 |
| NG_029122.1:g.27773C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000380259.7:c.231+15867C= | ENSP00000369609.3:n.231+15867C= |
| ENST00000642298.1:n.151+3319C= | |
| XM_011520424.1:c.896-3019C= | XP_011518726.1:n.896-3019C= |
| XM_011520425.1:c.795-3019C= | XP_011518727.1:n.795-3019C= |
| XM_017018462.2:c.895+3319C= | XP_016873951.1:n.895+3319C= |
| XR_001748014.2:n.1173+3319C= | |
| XR_001748015.2:n.1072+3319C= | |
| XR_001748017.2:n.1150+3319C= | |
| XR_001748018.2:n.1022+15867C= | |
| XR_930919.1:n.1084-3019C= |